Search Results for: P
Also known as: primary hypertrophic osteoarthropathy, pachydermoperiostosis syndrome, Rosenfeld-Kloepfer syndrome, Touraine-Solente-Gole syndrome, PHO Also known as: PCSubdivisions: PC-K6a (caused by mutations in KRT6A), PC-K6b (caused by mutations in KRT6B), PC-K6c (caused by mutations in KRT6C), PC-K16 (caused by mutations in KRT16), PC-K17 (caused by mutations in KRT17)
Also known as: osteitis deformans, Paget's disease of bone Also known as: mammary Paget's disease, Paget's disease of the nipple, Paget's disease of the nipple and areola Also known as: chromosome 12, Isochromosome 12p syndrome, Killian syndrome, Killian Teschler-Nicola syndrome, Pallister mosaic syndrome, Teschler-Nicola Killian syndrome, PKS, isochromosome 12p syndrome, tetrasomy 12p, mosaic Also known as: W Syndrome Also known as: CAVE (cerebro-acro-visceral early lethality) complex, congenital hypothalamic hamartoblastoma syndrome, Hall-Pallister syndrome, PHS Also known as: pustulosis palmaris et plantaris, PPP, localized pustular psoriasis (LPP), palmoplantar pustular psoriasis Also known as: pancreatic endocrine tumors, pancreatic islet cell tumors, pancreatic neuroendocrine tumors, pNET, islet cell carcinoma, islet cell tumorsSubdivisions: ACTHoma, calcitoninoma, gastrinoma, glucagonoma, GRFoma, insulinoma, PPHrPoma, Ppoma, somatostatinoma, VIPoma
Also known as: Hallervorden-Spatz Syndrome, HARP, HSS, NBIA1, neurodegeneration with brain iron accumulation type 1, Pigmentary Degeneration of Globus Pallidus, Substantia Nigra, Red Nucleus, PKAN Also known as: Optic Nerve Papillitis Also known as: keratoris palmoplantaris with periodontopathia, PLS Also known as: Lobo Disease, Lutz-Splendore-Almeida Disease, Paracoccidioidal Granuloma, PCM, South American Blastomycosis Also known as: Eulenburg disease, paralysis periodica paramyotonica, paramyotonia congenita of von Eulenburg, PMC, Von Eulenburg's disease Also known as: Donath-Landsteiner hemolytic anemia, Donath-Landsteiner syndrome, immune hemolytic anemia, paroxysmal cold, PCH Also known as: PNH Also known as: hemifacial atrophy (HFA), progressive facial hemiatrophy, progressive hemifacial atrophy, PRS, Romberg syndrome Also known as: Intermediate Uveitis (UI), Peripheral Retinal Inflammation, PP, Vitritis Also known as: acute brachial neuritis, brachial neuritis, brachial plexus neuritis, brachial plexus neuropathy, idiopathic brachial plexus neuropathy, neuralgic amyotrophy, PTS Also known as: PAIS, testicular feminizationSubdivisions: arrhythmogenic right ventricular dysplasia (ARVD), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM)
Also known as: pediatric NSCLC Also known as: deciduous skin, familial continuous skin peeling, skin peeling syndrome, exfoliative ichthyosis, PSSSubdivisions: generalized non-inflammatory type (PSS6, PSS5, PSS3), generalized inflammatory type (PSS1), localized (acral) type (PSS2, PSS4)
Also known as: PMD, hypomyelinating leukodystrophy 1, HLD1, sclerosis, diffuse familial brain Also known as: PDS, deafness with goiter, goiter-deafness syndrome, autosomal recessive sensorineural hearing impairment, enlarged vestibular aqueduct, and goiter Also known as: 49, XXXXX chromosome constitution, 49, XXXXX karyotype, 49, XXXXX syndrome, pentasomy X, XXXXX syndrome Also known as: Cantrell deformity, Cantrell pentalogy, Cantrell syndrome Also known as: phosphoenolpyruvate carboxykinase deficiencySubdivisions: PEPCK1 deficiency, PEPCK2 deficiency
Also known as: perivascular epithelioid tumor, PEComaSubdivisions: angiomyolipoma (AML), clear cell sugar tumor of the lung (CCTL), primary extrapulmonary sugar tumor (PEST), lymphangioleiomyomatosis (LAM), clear cell myomelanocytic tumor (CCMT) of the falciform ligament/ligamentum teres, primary cutaneous PEComa (CCCMT-cutaneous clear cell myomelanocytic tumor), primary cutaneous PEComa (CCCMT-cutaneous clear cell myomelanocytic tumor)
Also known as: chilblains, cold induced vascular disease, erythema, pernio, pernio Also known as: gonadal dysgenesis, XX type, with deafness, ovarian dysgenesis with sensorineural deafness, gonadal dysgenesis, XX type Also known as: Whooping Cough Also known as: PJS, polyposis, hamartomatous intestinal, polyps and spots syndrome Also known as: acrocephalosyndactyly, type V, ACSV, craniofacial-skeletal-dermatologic syndrome, Noack syndromeSubdivisions: Pfeiffer syndrome type I, Pfeiffer syndrome type II, Pfeiffer syndrome type III
Also known as: Pascual-Castroviejo type II syndrome, PHACE association, PHACES association, PHACES syndrome Also known as: 22q13 deletion syndrome, ring Chromosome 22, SHANK3 pathogenic variant, PMS Also known as: classical phenylketonuria, hyperphenylalanemia, phenylalanine hydroxylase deficiency, phenylalaninemia, PKU Also known as: adrenal paraganglioma, chromaffin cell tumor, adrenal gland chromaffin paraganglioma, adrenal gland paraganglioma, intraadrenal paraganglioma, chromaffin paraganglioma of the adrenal gland, adrenal gland pheochromocytoma, glomus tumors, extra-adrenal paraganglioma, extra-adrenal pheochromocytoma Also known as: anemia, hemolytic with PGK deficiency, erythrocyte phosphoglycerate kinase deficiency, PGK, phosphoglycerokinase Also known as: glossoptosis, micrognathia, and cleft palate, PRS, Robin syndrome Also known as: PROSSubdivisions: CLAPO syndrome, CLOVES syndrome, diffuse capillary malformation with overgrowth (DCMO), dysplastic megalencephaly (DMEG), fibroadipose hyperplasia (FAH)/fibroadipose overgrowth (FAO)/hemihyperplasia-multiple lipomatosis syndrome (HHML), fibroadipose vascular anomaly (FAVA), facial infiltrating lipomatosis (FIL), hemimegalencephaly (HMEG), Klippel-Trenaunay syndrome (KTS), lipomatosis of nerve (LON), macrodactyly, megalencephaly-capillary malformation syndrome (MCAP syndrome), muscular hemihyperplasia (HH)
Also known as: Azul, Carate, Empeines, Lota, Mal del Pinto, Tina Also known as: PTHS Also known as: Devergie disease, lichen ruber acuminatus, PRP, lichen acuminatus, pityriasis rubra pilaire (Fr.), lichen ruber pilaris Subdivisions: type 1 — classical adult onset, type 2 — atypical adult onset, type 3 — classical juvenile onset, type 4 — circumscribed juvenile onset, type 5 — atypical juvenile onset, type 6 — HIV-associated
Also known as: PLAN, neurodegeneration with brain iron accumulation 2A (NBIA2A), infantile neuroanonal dystrophy (INAD), formerly, Seitelberger disease, Karak syndromeSubdivisions: infantile neuroaxonal dystrophy (INAD), aNAD (atypical or juvenile neuroaxonal dystrophy), PLA2G6-related dystonia-parkinsonism
Also known as: Black Death, La Peste, pestilential feverSubdivisions: bubonic plague, pneumonic plague, septicemic plague
Also known as: cystic mesenchymal hamartoma, mesenchymal cystic hamartoma, pneumoblastoma, PPB, pulmonary rhabdomyosarcoma, rhabdomyosarcoma in lung cyst, CPAM/CCAM type 4Subdivisions: type Ir PPB, type I PPB, type II PPB, type III PPB
Also known as: carbohydrate-deficient glycoprotein syndrome, type Ia, CDG1A, CDGS Type Ia, congenital disorder of glycosylation type Ia, Jaeken syndromeSubdivisions: No subdivisions found
Also known as: pneumocystis jirovecii pneumonia , PJP, PCP, PCP pneumonia, pneumocystic carini pneumonia Also known as: Crow-Fukase syndrome, osteosclerotic myeloma, polyneuropathy, organomegaly, endocrinopathy, m-protein and skin changes syndrome , Takatsuki syndrome Also known as: Poland Anomaly, Poland Sequence, Poland Syndactyly, Unilateral Defect of Pectoralis Muscle and Syndactyly of the Hand Also known as: PAN, Periarteritis, Periarteritis nodosa, Polyarteritis, Polyarteritis nodosa Also known as: isolated polycystic liver disease, autosomal dominant polycystic liver disease (ADPLD), PCLD, PLD Also known as: erythremia, Osler-Vaquez disease, polycythemia rubra vera, primary polycythemia, splenomegalic polycythemia, Vaquez-Osler disease Also known as: Lobular Carcinoma of the Minor Salivary Glands, Low-Grade Papillary Carcinoma of the Palate, Pleomorphic Adenoma, PLGA, Terminal Duct Carcinoma Also known as: Anarthritic Syndrome, Arthritic Rheumatoid Disease, PMR Also known as: glycogen storage disease type II (GSD II), acid maltase deficiency (AMD), acid alpha-glucosidase (GAA) deficiency Also known as: arginyl-tRNA synthetase 2 (RARS2), cerebellar atrophy with progressive microcephaly, (CLAM), encephalopathy, fatal infantile, with olivopontocerebellar hyperplasia, fetal-onset olivopontocerebellar hypoplasia, olivopontocerebellar hypoplasia, fetal-onset, PCH with optic atrophy, pontocerebellar hypoplasia, type 1 (PCH1), pontocerebellar hypoplasia, type 2A (PCH2A), pontocerebellar hypoplasia, type 2B (PCH2B), pontocerebellar hypoplasia, type 2C (PCH2C), pontocerebellar hypoplasia, type 3 (PCH3), pontocerebellar hypoplasia, type 4 (PCH4), pontocerebellar hypoplasia, type 5 (PCH 5), pontocerebellar hypoplasia, type 6 (PCH6), pontocerebellar hypoplasia with anterior horn cell disease, pontocerebellar hypoplasia with infantile spinal muscular atrophy, pontocerebellar hypoplasia with progressive cerebral atrophy, volendam neurodegenerative diseaseSubdivisions: Acute Intermittent Porphyria, ALA-D Porphyria, Congenital Erythropoietic Porphyria, Hereditary Coproporphyria, Porphyria Cutanea Tarda, Protoporphyria, Variegate Porphyria
Also known as: UROD deficiency, uroporphyrinogen decarboxylase deficiencySubdivisions: familial porphyria cutanea tarda (PCT type 2), sporadic porphyria cutanea tarda (PCT type 1)
Also known as: Polio, Late Effects, Post-Polio Muscular Atrophy, Postpoliomyelitis syndrome, Post-Polio Sequelae Also known as: PTLD Also known as: choroiditis Also known as: oligohydramnios sequence, Potter sequence Also known as: Prader-Labhart-Willi syndrome, PWS, Willi-Prader syndrome Also known as: pubertas praecox, sexual precocitySubdivisions: central precocious puberty (CPP), gonadotropin-dependent precocious puberty, gonadotropin-independent precocious puberty, heterosexual precocious puberty, idiopathic precocious puberty, isosexual precocious puberty, male-limited precocious puberty, peripheral precocious puberty
Also known as: PBC Also known as: primary CNS lymphoma, PCNSLSubdivisions: AIDS-related PCNSL, non-AIDS-related PCNSL
Also known as: immotile cilia syndrome, PCDSubdivisions: Kartagener syndrome
Also known as: craniostenosisSubdivisions: nonsyndromic synostosis, syndromic synostosis
Also known as: dRTA, familial distal primary renal acidosis, renal tubular acidosis type 1Subdivisions: ATP6V1B1-associated distal renal tubular acidosis, ATP6V0A4-associated distal renal tubular acidosis, SLC4A1-associated distal renal tubular acidosis
Also known as: Fahr disease, formerly, familial idiopathic basal ganglia calcification, striopallidodentate calcinosis, PFBC Also known as: non-Hodgkin gastric lymphoma, primary Hodgkin's lymphoma of the stomach, stomach lymphoma, non-Hodgkins typeSubdivisions: diffuse large B-cell lymphoma (DLBCL) of the stomach, mucosa-associated lymphoid tissue (MALT) gastric lymphoma
Also known as: oxalosis, PHSubdivisions: primary hyperoxaluria type III (PH III), primary hyperoxaluria type II (PH II), primary hyperoxaluria type I (PH I)
Also known as: PHPT Also known as: PIL, Waldmann disease Also known as: Central Motor Neuron Disease, PLS Also known as: PMM Also known as: agnogenic myeloid metaplasia (AMM), chronic idiopathic myelofibrosis (CIMF), idiopathic myelofibrosis, IM, myelofibrosis with myeloid metaplasia, PMF Also known as: idiopathic orthostatic tremor Also known as: chronic obliterative cholangitis, fibrosing cholangitis, PSC, stenosing cholangitis Also known as: agnosis, primary, apperceptive agnosia, associative agnosia, monomodal visual amnesia, visual amnesiaSubdivisions: No subdivisions found
Also known as: Antibiotic-Induced Proctitis, Gonorrheal Proctitis, Herpetic Proctitis, Ischemic Proctitis, Radiation Proctitis, Syphilitic Proctitis Also known as: PML Also known as: Epilepsy, Myoclonic Progressive Familial, Myoclonic Epilepsy, Myoclonic Progressive Familial Epilepsy, Myoclonus Epilepsy, Progressive Familial Myoclonic EpilepsySubdivisions: Baltic Myoclonus Epilepsy, Lafora Body Disease, Lafora Disease, Included, Lundborg-Unverricht Disease, Included, Myoclonic Epilepsy, Hartung Type, Unverricht Disease, Unverricht-Lundborg Disease
Also known as: POH Also known as: nuchal dystonia dementia syndrome, PSP, Steele-Richardson-Olszewski syndrome Also known as: amenorrhea-galactorrhea, nonpuerperal, Forbes-Albright syndrome, galactorrhea-amenorrhea syndrome, nonpuerperal galactorrhea Also known as: propionyl-CoA carboxylase deficiency, PCC deficiency, PA, PCCA-related propionic acidemia, PCCB-related propionic acidemiaSubdivisions: neonatal-onset PA, late-onset PA
Also known as: Hereditary thrombophilia due to protein C deficiency, PROC deficiency Subdivisions: autosomal dominant protein C deficiency, autosomal recessive protein C deficiency
Also known as: hereditary thrombophilia due to protein S deficiency Also known as: PS Also known as: Abdominal Muscle Deficiency Syndrome, Congenital Absence of the Abdominal Muscles, Deficiency of abdominal musculature, Eagle-Barrett Syndrome, Obrinsky Syndrome, Triad syndrome Also known as: prurigo nodularis of Hyde, nodular prurigo, Picker's nodules , atypical nodular form of neurodermatitis circumscripta, lichen corneus obtusus, PN Also known as: ML IIIA, ML III alpha/beta, mucolipidosis IIIA, mucolipidosis III alpha/beta Also known as: PSACH Also known as: Apnea, Postanesthetic, Butyrylcholinesterase, Cholinesterase II Deficiency, Pseudocholinesterase E1, Succinylcholine Sensitivity, Suxamethonium Sensitivity Also known as: Martin-Albright Syndrome Also known as: low grade appendiceal mucinous neoplasm (LAMN), colloid carcinoma, disseminated peritoneal adenomucinosis (DPAM), malignant appendiceal tumor, malignant large bowel cystadenocarcinoma, malignant large bowel peritoneal carcinomatosis, malignant large bowel tumor, mucinous cyst adenocarcinoma, mucinous cystadenoma, peritoneal carcinomatosis, peritoneal mucinous carcinomatosis (PMCA), PMP, pseudomyxoma ovarii Also known as: PXE, Gronblad-Strandberg syndrome Also known as: ornithosis, parrot fever Also known as: PHTSSubdivisions: Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, multiple hamartoma syndrome, proteus-like syndrome
Also known as: Escobar Syndrome, multiple pterygium syndrome, pterygium colli syndrome, pterygium universale Also known as: PAP, pulmonary alveolar lipoproteinosis, phospholipidosisSubdivisions: primary PAP (autoimmune PAP, hereditary PAP), secondary PAP (multiple diseases), congenital PAP (multiple diseases, usually genetic)
Also known as: FPAH, HPAH, idiopathic pulmonary arterial hypertension, IPAH, PAH, precapillary pulmonary hypertension, primary obliterative pulmonary vascular disease, primary pulmonary hypertension, associated pulmonary arterial hypertension, APAHSubdivisions: heritable pulmonary arterial hypertension (HPAH), idiopathic pulmonary arterial hypertension (IPAH), associated pulmonary arterial hypertension (APAH)
Also known as: Bradbury-Eggleston syndrome , PAF Also known as: PRCA, Pure Red Blood Cell Aplasia Also known as: Pyknodysostosis , PKND, PYCD Also known as: PG Also known as: antiquitin deficiency, PDE, pyridoxine-dependent seizures Also known as: ataxia with lactic acidosis, type II, PC deficiencySubdivisions: pyruvate carboxylase deficiency type A, pyruvate carboxylase deficiency type B , pyruvate carboxylase deficiency type C
Also known as: intermittent ataxia with pyruvate dehydrogenase deficiency, lactic and pyruvate acidemia with carbohydrate sensitivity, lactic and pyruvate acidemia with episodic ataxia and weakness, PDH deficiency Also known as: PKD, PK deficiency
